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  • Title: A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.
    Author: Aicardi J, Goutières F.
    Journal: Ann Neurol; 1984 Jan; 15(1):49-54. PubMed ID: 6712192.
    Abstract:
    Eight infants developed a progressive disorder of the central nervous system with bilateral spasticity and dystonia, acquired microcephaly, and a rapid course toward profound deterioration and death. All the patients had abnormal cerebrospinal fluid with mild but persistent lymphocytosis. Computed tomography showed various combinations of bilateral symmetrical calcifications in the basal ganglia, progressive brain atrophy, and deep white matter hypodensities, the first two being present in all families but not in every individual patient. The disorder is familial and probably genetic in origin, although some features, especially the pleocytosis, may erroneously suggest an inflammatory condition.
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